ClinVar Miner

Submissions for variant NM_000036.3(AMPD1):c.1911C>T (p.Phe637=)

gnomAD frequency: 0.00417  dbSNP: rs34778674
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000152780 SCV000202168 benign not specified 2014-02-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000955762 SCV001102490 benign Muscle AMP deaminase deficiency 2024-01-17 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004714515 SCV005280446 benign not provided criteria provided, single submitter not provided

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